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https://www.readbyqxmd.com/read/29653236/chromosome-1q23-3q31-1-deletion-associated-with-decreased-newborn-screening-of-t-cell-receptor-rearrangement-circles-trecs
#1
Julia S Lee, Bradley A Becker, Amelia Kirby, Alan P Knutsen
No abstract text is available yet for this article.
April 10, 2018: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/29613974/fatal-p-jirovecii-and-cytomegalovirus-infections-in-an-infant-with-normal-trecs-count-pitfalls-of-newborn-screening-for-severe-combined-immunodeficiency
#2
Ana Mendez-Echevarria, Gonzalez-Granado Luis Ignacio, Luis M Allende, De Felipe Beatriz, Del Rosal Teresa, Calvo Cristina, Perez-Martinez Antonio, Ruiz Garcia Raquel, Neth Olaf
Newborn screening (NBS) for severe combined immunodeficiency (SCID) using T-cell receptor-excision circles (TRECs) allows prompt diagnosis and initiation of supportive and curative therapy thereby reducing morbidity and mortality. However, profound combined immunodeficiencies with normal numbers of non-functional T cells will go undetected. We present a patient with ORAI1 deficiency and normal TREC numbers observed after diagnosis at the age of 14 months who suffered from disseminated fatal cytomegalovirus and Pneumocystis jirovecii infection, demonstrating a potential pitfall of the current NBS program...
April 2, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29566344/diurnal-variation-in-repeated-sprint-performance-cannot-be-offset-when-rectal-and-muscle-temperatures-are-at-optimal-levels-38-5%C3%A2-c
#3
Samuel A Pullinger, Juha Oksa, Liam F Clark, Joe W F Guyatt, Antonia Newlove, Jatin G Burniston, Dominic A Doran, James M Waterhouse, Ben J Edwards
The present study investigated whether increasing morning rectal temperatures (Trec ) to evening levels, or increasing morning and evening Trec to an "optimal" level (38.5°C), resulting in increased muscle temperatures (Tm ), would offset diurnal variation in repeated sprint (RS) performance in a causal manner. Twelve trained males underwent five sessions [age (mean ± SD) 21.0 ± 2.3 years, maximal oxygen consumption (V̇O2 max) 60.0 ± 4.4 mL.kg-1  min-1 , height 1.79 ± 0.06 m, body mass 78...
March 22, 2018: Chronobiology International
https://www.readbyqxmd.com/read/29557676/controlling-rectal-and-muscle-temperatures-can-we-offset-diurnal-variation-in-repeated-sprint-performance
#4
Samuel A Pullinger, Juha Oksa, Emma L Brocklehurst, Reece P Iveson, Antonia Newlove, Jatin G Burniston, Dominic A Doran, James M Waterhouse, Ben J Edwards
The present study investigated whether increasing morning rectal temperatures (Trec ) to resting.evening levels, or decreasing evening Trec or muscle (Tm ) temperatures to morning values, would influence repeated sprint (RS) performance in a causal manner. Twelve trained males underwent five sessions [age (mean ± SD) 21.8 ± 2.6 yr, peak oxygen uptake ([Formula: see text] peak) 60.6 ± 4.6 mL kg min-1 , stature 1.78 ± 0.07 m and body mass 76.0 ± 6.3 kg]. These included a control morning (M, 07:30 h) and evening (E, 17:30 h) session (5-min warm-up), and three further sessions consisting of a warm-up morning trial (ME , on a motorised treadmill) until Trec reached evening levels; and two cool-down evening trials (in 16-17°C water) until Trec (EMrec ) or Tm (EMmuscle ) values reached morning temperatures, respectively...
March 20, 2018: Chronobiology International
https://www.readbyqxmd.com/read/29549995/in-shackleton-s-trails-central-and-local-thermoadaptive-modifications-to-cold-and-hypoxia-after-a-man-hauling-expedition-on-the-antarctic-plateau
#5
Michail E Keramidas, Roger Kölegård, Ola Eiken
Cold and hypoxia constitute the main environmental stressors encountered on the Antarctic Plateau. Hence, we examined whether central and/or peripheral acclimatisation to the combined stressors of cold and hypoxia would be developed in four men following an 11-day man-hauling expedition on this polar region. Before and after the journey, participants performed a static whole-body immersion in 21 °C water, during which they were breathing a hypoxic gas (partial pressure of inspired O2 : ~97 mmHg). To evaluate their local responses to cold, participants also immersed the hand into 8 °C water for 30 min, while they were whole-body immersed and mildly hypothermic [i...
April 2018: Journal of Thermal Biology
https://www.readbyqxmd.com/read/29533726/immersion-with-menthol-improves-recovery-between-two-cycling-exercises-in-hot-and-humid-environment
#6
Kévin Rinaldi, Than Tran Trong, Florence Riera, Katharina Appel, Olivier Hue
Endurance exercise performance is impaired in a hot and humid environment. This study compared the effects of cold water immersion, with (CMWI) and without (CWI) menthol, on the recovery of cycling performance. Eight heat-acclimatized cyclists (24.1 ± 4.4 years; 65.3 ± 5.2 kg) performed two randomized sessions, each consisting of a 20-min cycling trial (T1) followed by 10 min of immersion during recovery and then a second 20-min cycling trial (T2). Mean power output (PO) and perceived exertion (RPE) were recorded for both trials...
March 13, 2018: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/29527204/clinical-immunological-and-molecular-findings-in-five-patients-with-major-histocompatibility-complex-class-ii-deficiency-from-india
#7
Jahnavi Aluri, Maya Gupta, Aparna Dalvi, Snehal Mhatre, Manasi Kulkarni, Gouri Hule, Mukesh Desai, Nitin Shah, Prasad Taur, Ramprasad Vedam, Manisha Madkaikar
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID) characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+ T helper (Th) cells and Th cell-dependent antibody production by B cells. Affected children typically present with severe respiratory and gastrointestinal tract infections. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy available for treating these patients...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29524769/exposure-to-antimicrobial-resistant-escherichia-coli-through-the-consumption-of-ground-beef-in-western-canada
#8
Omid Nekouei, Sylvia Checkley, Cheryl Waldner, Ben A Smith, Jesse Invik, Carolee Carson, Brent Avery, Javier Sanchez, Sheryl Gow
Emergence and dissemination of antimicrobial resistance (AMR) in food-borne bacteria is a public health issue. Retail meat is considered an important carrier for antimicrobial-resistant Escherichia coli. Currently, resistance of E. coli strains to third generation cephalosporins are of particular concern, with significant potential animal and public health consequences. Resistance to tetracyclines is also a concern, due to high prevalence of this resistance and important co-resistance patterns. However, the actual likelihood of exposure to antimicrobial-resistant bacteria via the consumption of retail meats, beyond the simple frequencies of resistance found in samples of meat at the grocery store, in Canada remains to be investigated...
February 27, 2018: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29505141/high-rates-of-positive-severe-combined-immunodeficiency-screening-among-newborns-with-severe-intestinal-failure
#9
Brenna S Fullerton, Cristine S Velazco, Charles R Hong, Alexandra N Carey, Tom Jaksic
PURPOSE: Severe combined immunodeficiency (SCID) screening by T-cell receptor excision circles (TREC) has been part of Massachusetts routine newborn screening since 2009. Tetratricopeptide repeat domain 7A gene (TTC7A) mutations responsible for hereditary multiple intestinal atresia with combined immunodeficiency (MIA-CID) were also recently identified. We reviewed newborn SCID screening among infants with intestinal failure and correlated results with patient characteristics and outcomes...
January 2018: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29426829/impaired-thymopoiesis-predicts-for-a-high-risk-of-severe-infections-after-reduced-intensity-conditioning-without-anti-thymocyte-globulin-in-double-umbilical-cord-blood-transplantation
#10
Lucia E Duinhouwer, Nick Beije, Bronno van der Holt, Anita Rijken-Schelen, Cor H Lamers, Judith Somers, Eric Braakman, Jan J Cornelissen
Umbilical cord blood stem cell transplantation (UCBT) is associated with retarded hematopoietic recovery and immune reconstitution and a high infection-related morbidity and mortality, especially after conditioning including anti-thymocyte globulin (ATG). However, data on immune recovery, incidence of infections, and outcome in double UCBT (dUCBT) recipients receiving an ATG-free reduced intensity conditioning (RIC) are lacking. In this study, recovery of lymphocyte subsets, thymopoiesis, and its association with severe infections and clinical outcome was assessed in a group of 55 recipients of a dUCBT ATG-free RIC regimen...
February 9, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29288190/can-we-s-ave-the-rectum-by-watchful-waiting-or-t-rans-a-nal-microsurgery-following-chemo-r-adiotherapy-versus-t-otal-mesorectal-excision-for-early-re-ctal-c-ancer-star-trec-study-protocol-for-a-multicentre-randomised-feasibility-study
#11
Anouk J M Rombouts, Issam Al-Najami, Natalie L Abbott, Ane Appelt, Gunnar Baatrup, Simon Bach, Aneel Bhangu, Karen-Lise Garm Spindler, Richard Gray, Kelly Handley, Manjinder Kaur, Ellen Kerkhof, Camilla Jensenius Kronborg, Laura Magill, Corrie A M Marijnen, Iris D Nagtegaal, Lars Nyvang, Femke P Peters, Per Pfeiffer, Cornelis Punt, Philip Quirke, David Sebag-Montefiore, Mark Teo, Nick West, Johannes H W de Wilt
INTRODUCTION: Total mesorectal excision (TME) is the highly effective standard treatment for rectal cancer but is associated with significant morbidity and may be overtreatment for low-risk cancers. This study is designed to determine the feasibility of international recruitment in a study comparing organ-saving approaches versus standard TME surgery. METHODS AND ANALYSIS: STAR-TREC trial is a multicentre international randomised, three-arm parallel, phase II feasibility study in patients with biopsy-proven adenocarcinoma of the rectum...
December 28, 2017: BMJ Open
https://www.readbyqxmd.com/read/29275493/automatic-decision-support-for-clinical-diagnostic-literature-using-link-analysis-in-a-weighted-keyword-network
#12
Shuqing Li, Ying Sun, Dagobert Soergel
We present a novel approach to recommending articles from the medical literature that support clinical diagnostic decision-making, giving detailed descriptions of the associated ideas and principles. The specific goal is to retrieve biomedical articles that help answer questions of a specified type about a particular case. Based on the filtered keywords, MeSH(Medical Subject Headings) lexicon and the automatically extracted acronyms, the relationship between keywords and articles was built. The paper gives a detailed description of the process of by which keywords were measured and relevant articles identified based on link analysis in a weighted keywords network...
December 23, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29247721/polymorphisms-in-the-canine-il7r-3-utr-are-associated-with-thymic-output-in-labrador-retriever-dogs-and-influence-post-transcriptional-regulation-by-microrna-185
#13
Angela Holder, Gareth Jones, Francesca Soutter, Donald B Palmer, Richard Aspinall, Brian Catchpole
Interleukin-7 (IL-7) and its receptor (IL-7R) are essential for T cell development in the thymus, and changes in the IL-7/IL-7R pathway have been implicated in age-associated thymic involution which results in a reduction of naïve T cell output. The aim of this study was to investigate the relationship between IL7 and IL7R genetic variation and thymic output in dogs. No single nucleotide polymorphisms (SNPs) were identified in the canine IL7 gene, but a number were present in the canine IL7R gene. Polymorphisms in the IL7R exon 8 and 3'UTR were found to be associated with signal joint T cell receptor excision circle (sj-TREC) values (a biomarker of thymic output) in young and geriatric Labrador retrievers...
April 2018: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/29239983/effects-of-2-dehydration-on-lactate-concentration-during-constant-load-cycling
#14
J M Green, Miller Bl, J D Simpson, Dubroc Dr, Keyes Aa, Neal Kk, Gann Jj, Andre Tl
The lactate [La] threshold can predict endurance performance potential. Dehydration may alter [La] threshold. This study examined effects of dehydration on [La] response during constant load cycling. Recreationally fit (VO2 peak = 48.7 ± 5.2 ml•kg•min) male participants (n=9) completed 2 x 40 min constant-load cycling trials; euhydrated (HYD) and following previous evening passive (water bath) dehydration (2% body weight, DEH) (HYD and DEH counterbalanced). [La], heart rate (HR), 10 point Omni Ratings of Perceived Exertion (RPE) and rectal temperature (Trec) were measured following warm-up and at 10, 20, 30, and 40 min...
December 11, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/29167668/a-practical-approach-to-newborn-screening-for-severe-combined-immunodeficiency-using-the-t-cell-receptor-excision-circle-assay
#15
REVIEW
Monica S Thakar, Mary K Hintermeyer, Miranda G Gries, John M Routes, James W Verbsky
Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29167666/first-year-of-israeli-newborn-screening-for-severe-combined-immunodeficiency-clinical-achievements-and-insights
#16
Erez Rechavi, Atar Lev, Amos J Simon, Tali Stauber, Suha Daas, Talia Saraf-Levy, Arnon Broides, Amit Nahum, Nufar Marcus, Suhair Hanna, Polina Stepensky, Ori Toker, Ilan Dalal, Amos Etzioni, Shlomo Almashanu, Raz Somech
Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth. Herein, we describe the results of the first year of the Israeli SCID newborn screening (NBS) program. This important, life-saving screening test is available at no cost for every newborn in Israel. Eight SCID patients were diagnosed through the NBS program in its first year, revealing an incidence of 1:22,500 births in the Israeli population...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29163553/ppargamma-deficiency-counteracts-thymic-senescence
#17
David Ernszt, Krisztina Banfai, Zoltan Kellermayer, Attila Pap, Janet M Lord, Judit E Pongracz, Krisztian Kvell
Thymic senescence contributes to increased incidence of infection, cancer and autoimmunity at senior ages. This process manifests as adipose involution. As with other adipose tissues, thymic adipose involution is also controlled by PPARgamma. This is supported by observations reporting that systemic PPARgamma activation accelerates thymic adipose involution. Therefore, we hypothesized that decreased PPARgamma activity could prevent thymic adipose involution, although it may trigger metabolic adverse effects...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29116556/newborn-screening-for-primary-immunodeficiency-diseases-history-current-and-future-practice
#18
Jovanka R King, Lennart Hammarström
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life...
January 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29097072/recommendations-for-randomised-trials-in-surgical-oncology
#19
J C Glasbey, E L Magill, K Brock, S P Bach
Trials of surgical procedures in the treatment of malignant disease face a unique set of challenges. This review aimed to describe recommendations for the design, delivery and reporting of randomised trials in surgical oncology. A literature search was carried out without date limits to identify articles related to trial methodology research in surgery and surgical oncology. A narrative review was framed around two open National Institute of Health Research portfolio trials in colon and rectal cancer: the STAR-TREC trial (ISRCTN14240288) and the ROCCS trial (ISRCTN46330337)...
October 30, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29061814/cycloartobiloxanthone-inhibits-migration-and-invasion-of-lung-cancer-cells
#20
Sucharat Tungsukruthai, Boonchoo Sritularak, Pithi Chanvorachote
BACKGROUND/AIM: Metastasis in lung cancer is a major cause of high mortality. Metastasis depends on the potential of cancer cells to migrate and invade. Here we demonstrated the anti-migration and invasion activities of the compound cycloartobiloxanthone from Artocarpus gomezianus Wall. ex Tréc. (Moraceae). MATERIALS AND METHODS: The effect of the compound on viability of human lung cancer H460 cells was investigated by 3-[4,5-dimethylthiazol-2-yl]-2,5diphenyl tetrazoliumbromide (MTT) assay...
November 2017: Anticancer Research
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